List of variants reported as pathogenic for autosomal recessive hypohidrotic ectodermal dysplasia by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_022336.4(EDAR):c.1124G>A (p.Arg375His)	rs121908454	0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)	rs121908451	0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His)	rs121908450	0.00001
NM_022336.4(EDAR):c.329A>C (p.Asp110Ala)	rs121908455	0.00001
NC_000002.12:g.(?_108894471)_(108989220_?)del
NM_022336.4(EDAR):c.51+1G>A	rs797044435
NM_022336.4(EDAR):c.52-25_52-8del	rs1558814967
NM_022336.4(EDAR):c.719_722del (p.Lys240fs)	rs797044436
NM_022336.4(EDAR):c.803+1G>A	rs797044437
NM_145861.4(EDARADD):c.120+1G>A	rs879255553
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys)	rs74315309

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